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  6. Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial

Tdark Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial

Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in mitochondrial tRNAs that read codons beginning with adenine. Probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. Involved in mitochondrial genome maintenance.

 Comments

Property Summary

NCBI Gene PubMed Count 5
PubMed Score 3.17
PubTator Score 0.66

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count Z-score Confidence
Loeys-Dietz syndrome 23 4.536 2.3
Ehlers-Danlos syndrome 42 3.946 2.0

Expression

  Differential Expression (10)

Disease log2 FC p
Rheumatoid Arthritis -1.200 3.0e-03
gastric cancer 1.100 1.6e-03
oligodendroglioma 1.100 3.8e-15
osteosarcoma 1.133 1.1e-02
group 3 medulloblastoma 1.400 7.1e-05
medulloblastoma, large-cell 1.100 9.9e-05
primitive neuroectodermal tumor 1.200 7.2e-04
intraductal papillary-mucinous adenoma (... 1.100 4.3e-02
lung cancer 1.100 5.3e-03
pituitary cancer 1.100 2.7e-05

Synonym

Accession Q9H4B0 Q96EV9 Q96NH5
Symbols Qri7
OSGEPL

Gene

OSGEPL1

PANTHER Protein Class (3)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (11)

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 GO Function (3)

 GO Component (2)

 GO Process (1)

 Compartment GO Term (16)

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 HCA RNA Cell Line (56)

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Pathway (1)

Gene RIF (2)

PMID Text
20877624 Observational study of gene-disease association. (HuGE Navigator)
19460752 Knockdown of O-sialoglycoprotein endopeptidase-like 1 (OSGEPL1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells

AA Sequence 

MLILTKTAGVFFKPSKRKVYEFLRSFNFHPGTLFLHKIVLGIETSCDDTAAAVVDETGNVLGEAIHSQTE      1 - 70
VHLKTGGIVPPAAQQLHRENIQRIVQEALSASGVSPSDLSAIATTIKPGLALSLGVGLSFSLQLVGQLKK     71 - 140
PFIPIHHMEAHALTIRLTNKVEFPFLVLLISGGHCLLALVQGVSDFLLLGKSLDIAPGDMLDKVARRLSL    141 - 210
IKHPECSTMSGGKAIEHLAKQGNRFHFDIKPPLHHAKNCDFSFTGLQHVTDKIIMKKEKEEGIEKGQILS    211 - 280
SAADIAATVQHTMACHLVKRTHRAILFCKQRDLLPQNNAVLVASGGVASNFYIRRALEILTNATQCTLLC    281 - 350
PPPRLCTDNGIMIAWNGIERLRAGLGILHDIEGIRYEPKCPLGVDISKEVGEASIKVPQLKMEI          351 - 414
//

Text Mined References (8)

PMID Year Title
25162662 2014 Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19694617 2009 Eukaryotic GCP1 is a conserved mitochondrial protein required for progression of embryo development beyond the globular stage in Arabidopsis thaliana.
19578062 2009 Qri7/OSGEPL, the mitochondrial version of the universal Kae1/YgjD protein, is essential for mitochondrial genome maintenance.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.